CHODL

Chondrolectin
Identifiers
Symbols CHODL ; C21orf68; MT75; PRED12
External IDs OMIM: 607247 MGI: 2179069 HomoloGene: 11795 GeneCards: CHODL Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 140578 246048
Ensembl ENSG00000154645 ENSMUSG00000022860
UniProt Q9H9P2 Q9CXM0
RefSeq (mRNA) NM_001204174 NM_139134
RefSeq (protein) NP_001191103 NP_624360
Location (UCSC) Chr 21:
17.9 – 18.27 Mb
Chr 16:
78.93 – 78.95 Mb
PubMed search

Chondrolectin is a protein that in humans is encoded by the CHODL gene.[1][2] Mouse chondrolectin is encoded by Chodl.[3]

Structure

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[1][3] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[4] This protein has been shown to localise to the perinucleus.[1][5][6]

Function

The exact function of chondrolectin is unknown but it has been show to be a marker of fast motor neurons in mice,[6] and is involved in motor neuron development and growth in zebrafish (danio rerio).[7] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[8]

Clinical significance

Chondrolectin is alternatively spliced in the spinal cord of mouse models[9] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[8] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[10]

References

  1. 1 2 3 Weng L, Smits P, Wauters J, Merregaert J (Jun 2002). "Molecular cloning and characterization of human chondrolectin, a novel type I transmembrane protein homologous to C-type lectins". Genomics 80 (1): 62–70. doi:10.1006/geno.2002.6806. PMID 12079284.
  2. "Entrez Gene: CHODL chondrolectin".
  3. 1 2 Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, Van Marck E, Merregaert J (Apr 2003). "Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells". Gene 308: 21–29. doi:10.1016/s0378-1119(03)00425-6. PMID 12711387.
  4. Zelensky AN, Gready JE (Dec 2005). "The C-type lectin-like domain superfamily". FEBS J 272 (24): 6179–6217. doi:10.1111/j.1742-4658.2005.05031.x. PMID 16336259.
  5. Claessens A, Van de Vijver K, Van Bockstaele DR, Wauters J, Berneman ZN, Van Marck E, Merregaert J (Nov 2007). "Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin". Cell Biol Int 31 (11): 1323–1330. doi:10.1016/j.cellbi.2007.05.014. PMID 17606388.
  6. 1 2 Enjin A, Rabe N, Nakanishi ST, Vallstedt A, Gezelius H, Memic F, Lind M, Hjalt T, Tourtellotte WG, Bruder C, Eichele G, Whelan PJ, Kullander K (Jun 2010). "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells.". J Comp Neurol 518 (12): 2284–2304. doi:10.1002/cne.22332. PMID 20437528.
  7. Zhong, Z.; Ohnmacht, J.; Reimer, M. M.; Bach, I.; Becker, T.; Becker, C. G. (2012). "Chondrolectin Mediates Growth Cone Interactions of Motor Axons with an Intermediate Target". Journal of Neuroscience 32 (13): 4426–4439. doi:10.1523/JNEUROSCI.5179-11.2012. PMID 22457492.
  8. 1 2 Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K (Dec 2009). "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLoS Genet 5 (12): e1000773. doi:10.1371/journal.pgen.1000773. PMC 2787017. PMID 20019802.
  9. Sleigh JN, Gillingwater TH, Talbot K (Aug 2011). "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy". Dis Model Mech 4 (4): 457–467. doi:10.1242/dmm.007245. PMC 3124050. PMID 21708901.
  10. Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, Becker CG, Talbot K (Sep 2013). "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Hum Mol Genet 23 (4): 855–69. doi:10.1093/hmg/ddt477. PMID 24067532.

Further reading


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